alexa First Detection of Hypercholesterolemia Causing ApoB-100 R3527Q Mutation in a Family in Greece | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

First Detection of Hypercholesterolemia Causing ApoB-100 R3527Q Mutation in a Family in Greece

Chatzistefanidis D1,2*, Markoula S1, Vartholomatos G3, Milionis HJ4, Miltiadous G4, Georgiou I2, Elisaf MS4 and Kyritsis AP1

1Department of Neurology, Medical School, University of Ioannina, Ioannina, Greece

2Medical Genetics and Assisted Reproduction, Medical School, University of Ioannina, Ioannina, Greece

3Department of Haematology, University Hospital of Ioannina, Greece

4Department of Internal Medicine, University of Ioannina, Ioannina, Greece

*Corresponding Author:
Chatzistefanidis Dimitrios
Department of Neurology
Medical School, University of Ioannina
Ioannina, Greece
Tel: 00306970051261
Fax: 00302651099630
E-mail: [email protected]

Received date: June 15, 2013; Accepted date:July 01, 2013; Published date: July 04, 2013

Citation: Chatzistefanidis D, Markoula S, Vartholomatos G, Milionis HJ, Miltiadous G, et al. (2013) First Detection of Hypercholesterolemia Causing ApoB-100 R3527Q Mutation in a Family in Greece. J Genet Syndr Gene Ther 4:155. doi:10.4172/2157-7412.1000155

Copyright: © 2013 Chatzistefanidis D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Familial defective apolipoprotein B (FDB) is an autosomal dominant genetic disorder causing hypercholesterolemia in affected patients. It is occurring due to mutation of apoB gene leading to a decreased low density lipoprotein (LDL) particles clearance. The R3527Q mutation is one of the disease’s causative mutations. Data support mutation’s origin 6000-7000 years ago in Central Europe and its prevalence is decreasing in relation to the distance from where initially occurred. Until now, the presence of R3527Q mutation had not been confirmed in Greece. This is the first report of FDB due to R3527Q mutation in a family in Northwest Greece.


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